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Possible mitochondrial disorder - nuclear genes

Gene: CHCHD10

Green List (high evidence)

CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)
EnsemblGeneIds (GRCh38): ENSG00000250479
EnsemblGeneIds (GRCh37): ENSG00000250479
OMIM: 615903, Gene2Phenotype
CHCHD10 is in 14 panels

4 reviews

Eleanor Williams (Genomics England Curator)

PMID: 31261376 - Xiao et al 2020 - functional studies on CHCHD10. They find that it is highly expressed at the postsynapse of neuromuscular junctions (NMJ) in skeletal muscles. Knockout of CHCHD10 in mice resulted in motor defects, abnormal neuromuscular transmission and NMJ structure. They report that mitochondrial CHCHD10 is required for ATP production at NMJs by promoting AChRs gene expression
Created: 1 Sep 2020, 1:38 p.m. | Last Modified: 1 Sep 2020, 1:38 p.m.
Panel Version: 1.15

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911; Spinal muscular atrophy, Jokela type 615048

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: OMIM and reports. Not on the imprinted gene list.
Created: 26 Feb 2016, 3:35 p.m.
Comment on list classification: Green review, and seems to be enough evidence in OMIM that variants within this gene are disease related.
Created: 26 Feb 2016, 3:33 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

1 Sep 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CHCHD10 were set to

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CHCHD10 was added gene: CHCHD10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209